Galactose Supplementation in Patients With TMEM165-CDG Rescues the Glycosylation Defects

Human glycosylation disorders

(2017) Donna Krasnewich   Cancer Biomarkers

Metabolic flux control in glycosylation

(2016) Andrew G McDonald et al.   CURRENT OPINION IN STRUCTURAL BIOLOGY

Glycosylation abnormalities in Gdt1p/TMEM165 deficient cells result from a defect in Golgi manganese homeostasis

(2016) Sven Potelle et al.   HUMAN MOLECULAR GENETICS

SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation

(2015) Julien H. Park et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach

(2015) K. Dörre et al.   JOURNAL OF INHERITED METABOLIC DISEASE

High-resolution mass spectrometry glycoprofiling of intact transferrin for diagnosis and subtype identification in the congenital disorders of glycosylation

(2015) Monique van Scherpenzeel et al.   Translational Research

Congenital disorders of glycosylation: new defects and still counting

(2014) Kyle Scott et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Galactose supplementation in phosphoglucomutase-1 deficiency; review and outlook for a novel treatable CDG

(2014) Eva Morava   MOLECULAR GENETICS AND METABOLISM

Multiple Phenotypes in Phosphoglucomutase 1 Deficiency

(2014) Laura C. Tegtmeyer et al.   NEW ENGLAND JOURNAL OF MEDICINE

Understanding Human Glycosylation Disorders: Biochemistry Leads the Charge

(2013) Hudson H. Freeze   JOURNAL OF BIOLOGICAL CHEMISTRY

TMEM165 Deficiency Causes a Congenital Disorder of Glycosylation

(2012) François Foulquier et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Fiji: an open-source platform for biological-image analysis

(2012) Johannes Schindelin et al.   NATURE METHODS

The ortholog of human solute carrier family 35 member B1 (UDP-galactose transporter-related protein 1) is involved in maintenance of ER homeostasis and essential for larval development in Caenorhabditis elegans

(2009) Katsufumi Dejima et al.   FASEB JOURNAL

Deoxygenated Disaccharide Analogs as Specific Inhibitors of β1–4-Galactosyltransferase 1 and Selectin-mediated Tumor Metastasis

(2008) Jillian R. Brown et al.   JOURNAL OF BIOLOGICAL CHEMISTRY